Fabry's disease history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Symptoms
- Lack of sweating (anhidrosis) or decreased sweating
- Fatigue
- Red spots on skin (angiokeratomas): tiny, painless papules that appear at any region of the body, but are predominant on the thighs, buttocks, lower abdomen, and groin.
- Burning pain of the extremities. This pain can become very intense, especially when one has a fever.
- Loss of vision or blurry vision from corneal opacities.
- Difficulty swallowing (dysphagia)
- Abdominal pain
- Greasy stools (steatorrhea)
- Chest pain and palpitations
- Delayed puberty
- Pyrexia of unknown origin
- Cyanosis of extremities on exposure to cold (Raynaud's phenomenon)
- Hearing loss
- Loss of sensations in extremities
- Telangiectasis
- Lack of coordination of muscle movement (ataxia)